Ian Duncan is a Scotsman with the iron discipline and stamina of a competitive marathoner, triathlete and cross-country skier. As a neuroscientist at the School of Veterinary Medicine at the University of Wisconsin-Madison, ...

Using combinations of well-known approved drugs has for the first time been shown to be potentially safe in treating a rare disease, according to the results of a clinical trial published in the open access Orphanet Journal ...

Hereditary angioedema (HAE), a rare genetic disease that causes recurrent swelling under the skin and of the mucosal lining of the gastrointestinal tract and upper airway, usually first appears before 20 years of age. A comprehensive ...

A study has discovered the molecular mechanism that triggers homocystinuria, which is a rare disease that causes vascular and ocular disorders, skeletal deformities and mental retardation. It affects 1 in every 250,000 children ...

The European Medicines Agency (EMA) has granted "orphan designation" to BMS 204352, a molecule developed by the CNRS to treat Fragile X Syndrome, a rare genetic disease for which there exists no treatment. Protocol assistance ...